AP4B1

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1interferon-gamma production (GO:0032609)4.59151986
2DNA deamination (GO:0045006)4.21402186
3piRNA metabolic process (GO:0034587)4.13723519
4folic acid metabolic process (GO:0046655)3.99069103
5negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.91654210
6antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.82196932
7antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.82196932
8cysteine metabolic process (GO:0006534)3.81268708
9preassembly of GPI anchor in ER membrane (GO:0016254)3.70364224
10positive regulation of T cell cytokine production (GO:0002726)3.69888856
11glycine metabolic process (GO:0006544)3.66722267
12protoporphyrinogen IX metabolic process (GO:0046501)3.54451343
13DNA methylation involved in gamete generation (GO:0043046)3.48637026
14negative regulation of T cell mediated immunity (GO:0002710)3.47218721
15pentose-phosphate shunt (GO:0006098)3.44226004
16fucose catabolic process (GO:0019317)3.43817060
17L-fucose metabolic process (GO:0042354)3.43817060
18L-fucose catabolic process (GO:0042355)3.43817060
19positive regulation of granulocyte differentiation (GO:0030854)3.43156228
20alpha-linolenic acid metabolic process (GO:0036109)3.41984762
21synapsis (GO:0007129)3.36142833
22NADPH regeneration (GO:0006740)3.34509029
23activated T cell proliferation (GO:0050798)3.33945751
24positive regulation of alpha-beta T cell proliferation (GO:0046641)3.31110641
25antigen processing and presentation of endogenous antigen (GO:0019883)3.25635400
262-oxoglutarate metabolic process (GO:0006103)3.25528884
27protoporphyrinogen IX biosynthetic process (GO:0006782)3.23766983
28L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.23669068
29positive regulation of T-helper 1 type immune response (GO:0002827)3.22039857
30regulation of B cell receptor signaling pathway (GO:0050855)3.20795640
31purine nucleobase biosynthetic process (GO:0009113)3.19210669
32serine family amino acid catabolic process (GO:0009071)3.13438684
33lysine metabolic process (GO:0006553)3.12416450
34lysine catabolic process (GO:0006554)3.12416450
35folic acid transport (GO:0015884)3.11741846
36serine family amino acid metabolic process (GO:0009069)3.11558743
37regulation of alpha-beta T cell proliferation (GO:0046640)3.10014933
38sulfur amino acid catabolic process (GO:0000098)3.09617403
39nucleobase biosynthetic process (GO:0046112)3.07791227
40fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.06851506
41respiratory chain complex IV assembly (GO:0008535)3.04792320
42tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.04040668
43RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.04040668
44serine family amino acid biosynthetic process (GO:0009070)3.01814076
45positive regulation of T cell mediated cytotoxicity (GO:0001916)2.93819334
46positive regulation of gamma-delta T cell activation (GO:0046645)2.93487578
47folic acid-containing compound biosynthetic process (GO:0009396)2.93140706
48erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.92058131
49L-phenylalanine metabolic process (GO:0006558)2.92058131
50valine metabolic process (GO:0006573)2.91818001
51negative regulation of telomere maintenance (GO:0032205)2.89625515
52erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.86889033
53L-phenylalanine catabolic process (GO:0006559)2.86889033
54tricarboxylic acid metabolic process (GO:0072350)2.86152219
55glyoxylate metabolic process (GO:0046487)2.84418425
56heme transport (GO:0015886)2.82084591
57Golgi transport vesicle coating (GO:0048200)2.81400721
58COPI coating of Golgi vesicle (GO:0048205)2.81400721
59kynurenine metabolic process (GO:0070189)2.81351442
60GPI anchor metabolic process (GO:0006505)2.79578622
61protein polyglutamylation (GO:0018095)2.76929839
62regulation of cilium movement (GO:0003352)2.76562373
63positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.75197701
64axoneme assembly (GO:0035082)2.74983471
65GPI anchor biosynthetic process (GO:0006506)2.74797431
66regulation of T-helper 1 type immune response (GO:0002825)2.74575336
67formation of translation preinitiation complex (GO:0001731)2.72336824
68regulation of T cell cytokine production (GO:0002724)2.72074520
69rRNA modification (GO:0000154)2.72044886
70cytidine metabolic process (GO:0046087)2.71761655
71cytidine catabolic process (GO:0006216)2.71761655
72cytidine deamination (GO:0009972)2.71761655
73positive regulation of defense response to virus by host (GO:0002230)2.70705341
74cytochrome complex assembly (GO:0017004)2.70059096
75maturation of 5.8S rRNA (GO:0000460)2.69745129
76DNA demethylation (GO:0080111)2.67982778
77mitochondrial respiratory chain complex I assembly (GO:0032981)2.66539825
78NADH dehydrogenase complex assembly (GO:0010257)2.66539825
79mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.66539825
80RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.66473884
81pseudouridine synthesis (GO:0001522)2.66124921
82protein complex biogenesis (GO:0070271)2.65995847
83heme biosynthetic process (GO:0006783)2.65221600
84regulation of gamma-delta T cell differentiation (GO:0045586)2.64238549
85regulation of meiosis I (GO:0060631)2.64168015
86amino-acid betaine metabolic process (GO:0006577)2.63441635
87response to pheromone (GO:0019236)2.62995097
88L-methionine salvage (GO:0071267)2.61839339
89L-methionine biosynthetic process (GO:0071265)2.61839339
90amino acid salvage (GO:0043102)2.61839339
91biotin metabolic process (GO:0006768)2.61701278
92positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)2.61521218
93aromatic amino acid family catabolic process (GO:0009074)2.61417622
94ubiquinone metabolic process (GO:0006743)2.60749262
95pantothenate metabolic process (GO:0015939)2.58501858
96mitochondrial respiratory chain complex assembly (GO:0033108)2.58076957
97meiotic chromosome segregation (GO:0045132)2.57975080
98vitamin transmembrane transport (GO:0035461)2.57514217
99folic acid-containing compound metabolic process (GO:0006760)2.56374247
100mast cell activation involved in immune response (GO:0002279)2.56052936
101mast cell degranulation (GO:0043303)2.56052936
102porphyrin-containing compound biosynthetic process (GO:0006779)2.54850026
103mitochondrial RNA metabolic process (GO:0000959)2.54490561
104water-soluble vitamin biosynthetic process (GO:0042364)2.53925054
105regulation of CD4-positive, alpha-beta T cell activation (GO:2000514)2.53430370
106nucleoside salvage (GO:0043174)2.53077392
107urea cycle (GO:0000050)2.52852998
108urea metabolic process (GO:0019627)2.52852998
109cellular response to interleukin-15 (GO:0071350)2.52523674
110regulation of T cell mediated cytotoxicity (GO:0001914)2.52432943
111glucose catabolic process (GO:0006007)2.51869730
112positive regulation of T cell chemotaxis (GO:0010820)2.51183498
113regulation of T cell chemotaxis (GO:0010819)2.51183498
114ubiquinone biosynthetic process (GO:0006744)2.50709546
115pyrimidine ribonucleoside catabolic process (GO:0046133)2.50614997
116negative regulation of alpha-beta T cell activation (GO:0046636)2.50461571
117resolution of meiotic recombination intermediates (GO:0000712)2.49624316
118DNA catabolic process, exonucleolytic (GO:0000738)2.48450773
119mannosylation (GO:0097502)2.48163501
120urate metabolic process (GO:0046415)2.48026843
121replication fork processing (GO:0031297)2.47592644
122behavioral response to nicotine (GO:0035095)2.46433356
123triglyceride-rich lipoprotein particle remodeling (GO:0034370)2.46103129
124neural tube formation (GO:0001841)2.45984216
125negative regulation of adaptive immune response based on somatic recombination of immune receptors b2.45638937
126tryptophan metabolic process (GO:0006568)2.45520995
127reciprocal DNA recombination (GO:0035825)2.45449561
128reciprocal meiotic recombination (GO:0007131)2.45449561
129homocysteine metabolic process (GO:0050667)2.44599294
130cellular response to interferon-beta (GO:0035458)2.43262706
131L-serine metabolic process (GO:0006563)2.42055058
132negative regulation of lymphocyte mediated immunity (GO:0002707)2.41203300
133one-carbon metabolic process (GO:0006730)2.41197899
134metallo-sulfur cluster assembly (GO:0031163)2.40863649
135iron-sulfur cluster assembly (GO:0016226)2.40863649
136positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.40821924
137regulation of triglyceride catabolic process (GO:0010896)2.40771177
138antigen processing and presentation via MHC class Ib (GO:0002475)2.40227051
139fructose metabolic process (GO:0006000)2.40135786
140GMP metabolic process (GO:0046037)2.39893188
141positive regulation of B cell differentiation (GO:0045579)2.39715878
142rRNA methylation (GO:0031167)2.38844220
143indole-containing compound catabolic process (GO:0042436)2.38004506
144indolalkylamine catabolic process (GO:0046218)2.38004506
145tryptophan catabolic process (GO:0006569)2.38004506
146heme metabolic process (GO:0042168)2.37922512
147C-terminal protein lipidation (GO:0006501)2.37468742
148DNA double-strand break processing (GO:0000729)2.37124800
149histone H2A acetylation (GO:0043968)2.36553820
150tRNA processing (GO:0008033)2.35350038
1514-hydroxyproline metabolic process (GO:0019471)2.34625723
152mast cell activation (GO:0045576)2.34303174
153tRNA modification (GO:0006400)2.34294360
154oxaloacetate metabolic process (GO:0006107)2.33810782
155methionine biosynthetic process (GO:0009086)2.32937864
156sulfur amino acid biosynthetic process (GO:0000097)2.32446962
157negative regulation of adaptive immune response (GO:0002820)2.32121119
158UDP-N-acetylglucosamine metabolic process (GO:0006047)2.31495217
159purine nucleobase metabolic process (GO:0006144)2.31159782
160histone mRNA catabolic process (GO:0071044)2.30943455
161regulation of gamma-delta T cell activation (GO:0046643)2.30769991
162cofactor transport (GO:0051181)2.30552981
163nucleotide salvage (GO:0043173)2.29785260
164cellular response to interleukin-4 (GO:0071353)2.29675557
165epithelial cilium movement (GO:0003351)2.29317123
166ethanol oxidation (GO:0006069)2.29275597
167somatic hypermutation of immunoglobulin genes (GO:0016446)2.28817350
168regulation of spindle organization (GO:0090224)2.28621969
169protein localization to chromosome, centromeric region (GO:0071459)2.27708424
170plasma lipoprotein particle clearance (GO:0034381)2.27349018
171porphyrin-containing compound metabolic process (GO:0006778)2.27146646
172protein localization to kinetochore (GO:0034501)2.26246850
173DNA strand elongation involved in DNA replication (GO:0006271)2.25441469
174pyrimidine nucleoside salvage (GO:0043097)2.25252571
175pyrimidine-containing compound salvage (GO:0008655)2.25252571
176NADH metabolic process (GO:0006734)2.24905923
177nitrogen cycle metabolic process (GO:0071941)2.24225826
178negative regulation of erythrocyte differentiation (GO:0045647)2.24043908
179plasma lipoprotein particle assembly (GO:0034377)2.22714715
180negative regulation of fibrinolysis (GO:0051918)2.22421341
181bile acid biosynthetic process (GO:0006699)2.22197193
182mitotic nuclear envelope disassembly (GO:0007077)2.21427556
183fatty acid beta-oxidation (GO:0006635)2.21219984
184monoubiquitinated protein deubiquitination (GO:0035520)2.20950848
185pteridine-containing compound metabolic process (GO:0042558)2.20639156
186sulfur amino acid metabolic process (GO:0000096)2.20598432
187branched-chain amino acid metabolic process (GO:0009081)2.19398350
188cellular response to arsenic-containing substance (GO:0071243)2.19058682
189regulation of protein activation cascade (GO:2000257)2.18308919
190cellular metabolic compound salvage (GO:0043094)2.17986059
191protein-lipid complex assembly (GO:0065005)2.16563141
192complement activation, alternative pathway (GO:0006957)2.16021904
193aromatic amino acid family metabolic process (GO:0009072)2.15482095
194S-adenosylmethionine metabolic process (GO:0046500)2.15093470
195tetrahydrofolate metabolic process (GO:0046653)2.13156017

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human3.72631065
2ESR1_17901129_ChIP-ChIP_LIVER_Mouse3.61915282
3ZNF274_21170338_ChIP-Seq_K562_Hela3.47526393
4EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.35782923
5HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.79193504
6VDR_22108803_ChIP-Seq_LS180_Human2.74889275
7NOTCH1_21737748_ChIP-Seq_TLL_Human2.69125813
8FOXM1_23109430_ChIP-Seq_U2OS_Human2.35894918
9MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.35827441
10PPARA_22158963_ChIP-Seq_LIVER_Mouse2.31374749
11RXR_22158963_ChIP-Seq_LIVER_Mouse2.26723599
12MYC_18555785_ChIP-Seq_MESCs_Mouse2.20665318
13PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.19881020
14IRF8_22096565_ChIP-ChIP_GC-B_Human2.18470986
15CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.13654720
16IGF1R_20145208_ChIP-Seq_DFB_Human2.12537186
17MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.09947714
18CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.04013633
19ELF1_17652178_ChIP-ChIP_JURKAT_Human1.97994074
20GATA1_22025678_ChIP-Seq_K562_Human1.96795677
21ELK1_19687146_ChIP-ChIP_HELA_Human1.93443595
22JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.91896555
23EGR1_23403033_ChIP-Seq_LIVER_Mouse1.90020325
24CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.87303244
25SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.87161940
26ETS1_20019798_ChIP-Seq_JURKAT_Human1.86485447
27* ER_23166858_ChIP-Seq_MCF-7_Human1.86456552
28MYC_22102868_ChIP-Seq_BL_Human1.84903962
29* MYC_18358816_ChIP-ChIP_MESCs_Mouse1.82778883
30STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.81341893
31* CREB1_15753290_ChIP-ChIP_HEK293T_Human1.80193923
32FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.79013544
33GABP_17652178_ChIP-ChIP_JURKAT_Human1.78315230
34KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.75894041
35EST1_17652178_ChIP-ChIP_JURKAT_Human1.74845043
36GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.74763582
37TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.72718882
38FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.70911124
39* MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.70475452
40VDR_23849224_ChIP-Seq_CD4+_Human1.68847387
41E2F4_17652178_ChIP-ChIP_JURKAT_Human1.67405011
42SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.66978966
43FLI1_27457419_Chip-Seq_LIVER_Mouse1.66038616
44FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.64266146
45FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.63740712
46* PADI4_21655091_ChIP-ChIP_MCF-7_Human1.62769689
47TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.59617891
48RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.59028376
49VDR_21846776_ChIP-Seq_THP-1_Human1.58177171
50EWS_26573619_Chip-Seq_HEK293_Human1.58079439
51MYB_21317192_ChIP-Seq_ERMYB_Mouse1.56736868
52NELFA_20434984_ChIP-Seq_ESCs_Mouse1.56610766
53GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.56441410
54AR_21909140_ChIP-Seq_LNCAP_Human1.56245797
55XRN2_22483619_ChIP-Seq_HELA_Human1.55362351
56LXR_22158963_ChIP-Seq_LIVER_Mouse1.54835822
57IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.53910062
58ERG_20887958_ChIP-Seq_HPC-7_Mouse1.51351941
59MYC_18940864_ChIP-ChIP_HL60_Human1.50484987
60ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.50228635
61CIITA_25753668_ChIP-Seq_RAJI_Human1.50201882
62SALL1_21062744_ChIP-ChIP_HESCs_Human1.50053695
63* FOXP3_21729870_ChIP-Seq_TREG_Human1.48932405
64PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.48466400
65MYC_19030024_ChIP-ChIP_MESCs_Mouse1.47974004
66E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.47790482
67FUS_26573619_Chip-Seq_HEK293_Human1.47465388
68PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.44067568
69SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.43506181
70SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.42112590
71NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.41834016
72EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.41262765
73E2F1_18555785_ChIP-Seq_MESCs_Mouse1.41165307
74GABP_19822575_ChIP-Seq_HepG2_Human1.40676842
75IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.40054913
76RBPJ_22232070_ChIP-Seq_NCS_Mouse1.39733183
77SCL_19346495_ChIP-Seq_HPC-7_Human1.39731484
78GATA3_26560356_Chip-Seq_TH2_Human1.39520245
79GATA1_22383799_ChIP-Seq_G1ME_Mouse1.37621218
80STAT3_1855785_ChIP-Seq_MESCs_Mouse1.36577481
81MYC_19079543_ChIP-ChIP_MESCs_Mouse1.36291858
82TP53_22573176_ChIP-Seq_HFKS_Human1.36036037
83IRF8_21731497_ChIP-ChIP_J774_Mouse1.35862518
84HOXB4_20404135_ChIP-ChIP_EML_Mouse1.35631479
85HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.35466339
86NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.34878769
87POU3F2_20337985_ChIP-ChIP_501MEL_Human1.34594361
88DCP1A_22483619_ChIP-Seq_HELA_Human1.33309425
89SPI1_23547873_ChIP-Seq_NB4_Human1.33085144
90IRF1_19129219_ChIP-ChIP_H3396_Human1.31610102
91KDM5A_27292631_Chip-Seq_BREAST_Human1.28073812
92CTBP2_25329375_ChIP-Seq_LNCAP_Human1.27813396
93SRF_21415370_ChIP-Seq_HL-1_Mouse1.27498130
94CTBP1_25329375_ChIP-Seq_LNCAP_Human1.26688787
95ZFP57_27257070_Chip-Seq_ESCs_Mouse1.26189248
96PCGF2_27294783_Chip-Seq_ESCs_Mouse1.25884394
97MAF_26560356_Chip-Seq_TH1_Human1.22327840
98* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.22067532
99* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.21129590
100GATA2_22383799_ChIP-Seq_G1ME_Mouse1.20840986
101FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.20486861
102TFEB_21752829_ChIP-Seq_HELA_Human1.19283122
103MYB_26560356_Chip-Seq_TH1_Human1.18524080
104YY1_21170310_ChIP-Seq_MESCs_Mouse1.17341535
105TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.17255842
106E2F1_21310950_ChIP-Seq_MCF-7_Human1.17208075
107* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.16957002
108NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.16791563
109TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.15778565
110FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.15694645
111LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.15505226
112MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.14968911
113BRD4_27068464_Chip-Seq_AML-cells_Mouse1.14868055
114HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.14659389
115MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.14257137
116EGR1_19374776_ChIP-ChIP_THP-1_Human1.14044416
117YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.13843857
118NCOR_22424771_ChIP-Seq_293T_Human1.10755164
119CLOCK_20551151_ChIP-Seq_293T_Human1.10454355
120* MYB_26560356_Chip-Seq_TH2_Human1.10019690
121RUNX1_22412390_ChIP-Seq_EML_Mouse1.10016839
122KLF4_18555785_ChIP-Seq_MESCs_Mouse1.09715430
123UTX_26944678_Chip-Seq_JUKART_Human1.08335746
124HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.07988895
125CBP_20019798_ChIP-Seq_JUKART_Human1.07871055
126IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.07871055
127THAP11_20581084_ChIP-Seq_MESCs_Mouse1.06928583
128CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.06700522
129GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.06277789
130PCGF2_27294783_Chip-Seq_NPCs_Mouse1.05967065
131CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.05320948
132GATA3_27048872_Chip-Seq_THYMUS_Human1.05196753
133ZNF263_19887448_ChIP-Seq_K562_Human1.04565197
134EZH2_22144423_ChIP-Seq_EOC_Human1.02907632
135* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.02407836
136SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.01042681
137PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.00003161
138POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.99944788
139LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.99637802
140GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.97832234
141DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.97138597
142TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.97122932
143MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.97028952
144ETV2_25802403_ChIP-Seq_MESCs_Mouse0.96201678
145* GATA1_19941827_ChIP-Seq_MEL_Mouse0.95710963
146STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.95544187
147CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.95358321
148GATA3_21878914_ChIP-Seq_MCF-7_Human0.94517099
149CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.93379795
150HOXB7_26014856_ChIP-Seq_BT474_Human0.92809335
151PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.91321813
152FOXA1_27270436_Chip-Seq_PROSTATE_Human0.90912548
153FOXA1_25329375_ChIP-Seq_VCAP_Human0.90912548
154NANOG_19829295_ChIP-Seq_ESCs_Human0.89532954
155SOX2_19829295_ChIP-Seq_ESCs_Human0.89532954
156RUNX_20019798_ChIP-Seq_JUKART_Human0.88187167
157SALL4_22934838_ChIP-ChIP_CD34+_Human0.87990675
158P300_19829295_ChIP-Seq_ESCs_Human0.86223398
159TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.85146012
160GATA3_26560356_Chip-Seq_TH1_Human0.84560541
161NFE2_27457419_Chip-Seq_LIVER_Mouse0.84050558
162* AR_20517297_ChIP-Seq_VCAP_Human0.83947372
163SUZ12_27294783_Chip-Seq_NPCs_Mouse0.83711782
164STAT4_19710469_ChIP-ChIP_TH1__Mouse0.83532602
165PRDM14_20953172_ChIP-Seq_ESCs_Human0.83130962

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008877_abnormal_DNA_methylation3.77678162
2MP0003806_abnormal_nucleotide_metabolis3.38009645
3MP0003656_abnormal_erythrocyte_physiolo3.34216571
4MP0009840_abnormal_foam_cell3.26357495
5MP0002139_abnormal_hepatobiliary_system3.07721905
6MP0005360_urolithiasis3.00553474
7MP0005365_abnormal_bile_salt2.98711698
8MP0005085_abnormal_gallbladder_physiolo2.73941000
9MP0002102_abnormal_ear_morphology2.55013299
10MP0003787_abnormal_imprinting2.38122611
11MP0003011_delayed_dark_adaptation2.28277724
12MP0004147_increased_porphyrin_level2.16394992
13MP0003693_abnormal_embryo_hatching2.14156409
14MP0005075_abnormal_melanosome_morpholog2.11335841
15MP0005310_abnormal_salivary_gland2.08533251
16MP0000569_abnormal_digit_pigmentation2.02693582
17MP0001986_abnormal_taste_sensitivity1.96785035
18MP0010329_abnormal_lipoprotein_level1.96708162
19MP0002163_abnormal_gland_morphology1.89648002
20MP0008995_early_reproductive_senescence1.84342172
21MP0003191_abnormal_cellular_cholesterol1.82609322
22MP0008875_abnormal_xenobiotic_pharmacok1.81583148
23MP0005058_abnormal_lysosome_morphology1.78937923
24MP0003646_muscle_fatigue1.78476314
25MP0000609_abnormal_liver_physiology1.76593206
26MP0001835_abnormal_antigen_presentation1.72064315
27MP0003786_premature_aging1.71439289
28MP0001666_abnormal_nutrient_absorption1.70863459
29MP0005332_abnormal_amino_acid1.70453837
30MP0003186_abnormal_redox_activity1.66808960
31MP0002396_abnormal_hematopoietic_system1.65035707
32MP0004142_abnormal_muscle_tone1.64620600
33MP0005551_abnormal_eye_electrophysiolog1.64015853
34MP0005397_hematopoietic_system_phenotyp1.63028750
35MP0001545_abnormal_hematopoietic_system1.63028750
36MP0005464_abnormal_platelet_physiology1.59966995
37MP0003436_decreased_susceptibility_to1.58159437
38MP0001764_abnormal_homeostasis1.55504325
39MP0008872_abnormal_physiological_respon1.55239710
40MP0005083_abnormal_biliary_tract1.52143800
41MP0004019_abnormal_vitamin_homeostasis1.51286454
42MP0008260_abnormal_autophagy1.46373700
43MP0000372_irregular_coat_pigmentation1.46292587
44MP0004957_abnormal_blastocyst_morpholog1.46190715
45MP0005319_abnormal_enzyme/_coenzyme1.42315458
46MP0006292_abnormal_olfactory_placode1.41413260
47MP0002928_abnormal_bile_duct1.41389987
48MP0002398_abnormal_bone_marrow1.40432884
49MP0000689_abnormal_spleen_morphology1.40093572
50MP0001800_abnormal_humoral_immune1.38808137
51MP0006036_abnormal_mitochondrial_physio1.38404868
52MP0003077_abnormal_cell_cycle1.37720489
53MP0003880_abnormal_central_pattern1.36438953
54MP0005645_abnormal_hypothalamus_physiol1.35894771
55MP0003950_abnormal_plasma_membrane1.35845575
56MP0000685_abnormal_immune_system1.35730005
57MP0003111_abnormal_nucleus_morphology1.35004741
58MP0009333_abnormal_splenocyte_physiolog1.32516209
59MP0009643_abnormal_urine_homeostasis1.29754670
60MP0000598_abnormal_liver_morphology1.28929550
61MP0002722_abnormal_immune_system1.27704036
62MP0001929_abnormal_gametogenesis1.26520175
63MP0003252_abnormal_bile_duct1.24784943
64MP0008469_abnormal_protein_level1.23441769
65MP0004808_abnormal_hematopoietic_stem1.22821947
66MP0003866_abnormal_defecation1.22613704
67MP0005666_abnormal_adipose_tissue1.21566062
68MP0002160_abnormal_reproductive_system1.20774062
69MP0005584_abnormal_enzyme/coenzyme_acti1.20520104
70MP0009785_altered_susceptibility_to1.20478432
71MP0010094_abnormal_chromosome_stability1.19627709
72MP0005025_abnormal_response_to1.19601136
73MP0001968_abnormal_touch/_nociception1.18936873
74MP0001984_abnormal_olfaction1.18222508
75MP0000427_abnormal_hair_cycle1.17953534
76MP0005499_abnormal_olfactory_system1.17744732
77MP0005394_taste/olfaction_phenotype1.17744732
78MP0002006_tumorigenesis1.17652551
79MP0002429_abnormal_blood_cell1.17061061
80MP0002723_abnormal_immune_serum1.16570939
81MP0005084_abnormal_gallbladder_morpholo1.16428074
82MP0002452_abnormal_antigen_presenting1.15944884
83MP0002118_abnormal_lipid_homeostasis1.14816449
84MP0003303_peritoneal_inflammation1.14274738
85MP0005671_abnormal_response_to1.13610899
86MP0006054_spinal_hemorrhage1.13549441
87MP0010307_abnormal_tumor_latency1.12391902
88MP0000490_abnormal_crypts_of1.12356804
89MP0001853_heart_inflammation1.12121702
90MP0005000_abnormal_immune_tolerance1.11727610
91MP0000716_abnormal_immune_system1.11641329
92MP0000015_abnormal_ear_pigmentation1.11040004
93MP0005389_reproductive_system_phenotype1.11005062
94MP0002420_abnormal_adaptive_immunity1.10522866
95MP0005636_abnormal_mineral_homeostasis1.09425881
96MP0001819_abnormal_immune_cell1.08680733
97MP0002837_dystrophic_cardiac_calcinosis1.08423290
98MP0008789_abnormal_olfactory_epithelium1.08349059
99MP0005253_abnormal_eye_physiology1.06885888
100MP0004947_skin_inflammation1.06627647
101MP0003698_abnormal_male_reproductive1.05539719
102MP0002419_abnormal_innate_immunity1.05445672
103MP0001845_abnormal_inflammatory_respons1.05229944
104MP0003705_abnormal_hypodermis_morpholog1.05101902
105MP0002210_abnormal_sex_determination1.04653877
106MP0006276_abnormal_autonomic_nervous1.03319089
107MP0010234_abnormal_vibrissa_follicle1.03289849
108MP0002653_abnormal_ependyma_morphology1.02973493
109MP0005174_abnormal_tail_pigmentation1.01892077
110MP0005379_endocrine/exocrine_gland_phen1.00356833
111MP0001730_embryonic_growth_arrest0.98228527
112MP0002019_abnormal_tumor_incidence0.97902273
113MP0005451_abnormal_body_composition0.97432810
114MP0002277_abnormal_respiratory_mucosa0.96890261
115MP0003121_genomic_imprinting0.96249163
116MP0008058_abnormal_DNA_repair0.95611871
117MP0009745_abnormal_behavioral_response0.95095777
118MP0003718_maternal_effect0.94129658
119MP0006072_abnormal_retinal_apoptosis0.93992128
120MP0008057_abnormal_DNA_replication0.93544078
121MP0000358_abnormal_cell_content/0.93490653
122MP0001145_abnormal_male_reproductive0.93349454
123MP0003724_increased_susceptibility_to0.93333032
124MP0001919_abnormal_reproductive_system0.93182753
125MP0009763_increased_sensitivity_to0.92483102
126MP0002095_abnormal_skin_pigmentation0.91496996
127MP0001501_abnormal_sleep_pattern0.91220346
128MP0003300_gastrointestinal_ulcer0.90942216
129MP0000350_abnormal_cell_proliferation0.89739298
130MP0002638_abnormal_pupillary_reflex0.89665659
131MP0003195_calcinosis0.89494039
132MP0003763_abnormal_thymus_physiology0.89374045
133MP0000653_abnormal_sex_gland0.88382461
134MP0001529_abnormal_vocalization0.87666968
135MP0000465_gastrointestinal_hemorrhage0.87649685
136MP0003221_abnormal_cardiomyocyte_apopto0.87228895
137MP0002405_respiratory_system_inflammati0.86158343
138MP0010155_abnormal_intestine_physiology0.85884584
139MP0002166_altered_tumor_susceptibility0.85706969
140MP0001873_stomach_inflammation0.85373418
141MP0003566_abnormal_cell_adhesion0.82273724
142MP0001790_abnormal_immune_system0.80762990
143MP0005387_immune_system_phenotype0.80762990
144MP0005646_abnormal_pituitary_gland0.80534763
145MP0003172_abnormal_lysosome_physiology0.80324836
146MP0010352_gastrointestinal_tract_polyps0.80001908
147MP0004130_abnormal_muscle_cell0.79971678
148MP0002148_abnormal_hypersensitivity_rea0.79499337
149MP0002736_abnormal_nociception_after0.79332376
150MP0002272_abnormal_nervous_system0.79121648
151MP0000703_abnormal_thymus_morphology0.78775152
152MP0009765_abnormal_xenobiotic_induced0.77872989
153MP0005670_abnormal_white_adipose0.77857287
154MP0006035_abnormal_mitochondrial_morpho0.77375549
155MP0002136_abnormal_kidney_physiology0.77128897
156MP0003868_abnormal_feces_composition0.76090724
157MP0009764_decreased_sensitivity_to0.76035553
158MP0002693_abnormal_pancreas_physiology0.75878733
159MP0005410_abnormal_fertilization0.75444459
160MP0000313_abnormal_cell_death0.74851309
161MP0001486_abnormal_startle_reflex0.74537933

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)3.58524328
2Abnormality of monocarboxylic acid metabolism (HP:0010996)3.55064865
3Abnormality of the heme biosynthetic pathway (HP:0010472)3.47421662
43-Methylglutaconic aciduria (HP:0003535)3.44499197
5Panhypogammaglobulinemia (HP:0003139)3.39438235
6Deep venous thrombosis (HP:0002625)3.39007443
7Hyperglycinuria (HP:0003108)3.34722143
8Abnormality of the pons (HP:0007361)3.28760018
9Xanthomatosis (HP:0000991)3.25474443
10Abnormal delayed hypersensitivity skin test (HP:0002963)3.24301257
11Poikilocytosis (HP:0004447)3.23167107
12Abnormality of aromatic amino acid family metabolism (HP:0004338)3.23144034
13Retrobulbar optic neuritis (HP:0100654)3.17953814
14Optic neuritis (HP:0100653)3.17953814
15Hypobetalipoproteinemia (HP:0003563)3.17596775
16Hypoalphalipoproteinemia (HP:0003233)3.15867883
17Pancreatic fibrosis (HP:0100732)3.11560764
18Hypolipoproteinemia (HP:0010981)3.08299004
19Hyperlipoproteinemia (HP:0010980)3.02246518
20Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.01884713
21Intrahepatic cholestasis (HP:0001406)2.95059181
22Abnormality of fatty-acid metabolism (HP:0004359)2.93987202
23Acanthocytosis (HP:0001927)2.93673177
24Hyperglycinemia (HP:0002154)2.92679571
25Myositis (HP:0100614)2.88225540
26Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.87390457
27Abnormality of glycine metabolism (HP:0010895)2.80524580
28Abnormality of serine family amino acid metabolism (HP:0010894)2.80524580
29Duplicated collecting system (HP:0000081)2.71969429
30Hyperammonemia (HP:0001987)2.71432465
31Abnormal cartilage morphology (HP:0002763)2.69329183
32Hepatocellular necrosis (HP:0001404)2.68517919
33True hermaphroditism (HP:0010459)2.67897133
34Medial flaring of the eyebrow (HP:0010747)2.67104462
35Ketosis (HP:0001946)2.66511726
36Congenital stationary night blindness (HP:0007642)2.63887285
37Hyperbilirubinemia (HP:0002904)2.59769360
38Molar tooth sign on MRI (HP:0002419)2.59624939
39Abnormality of midbrain morphology (HP:0002418)2.59624939
40Orchitis (HP:0100796)2.58430980
41Nasal polyposis (HP:0100582)2.58247723
42Type II lissencephaly (HP:0007260)2.57411860
43Abnormality of the renal collecting system (HP:0004742)2.57254253
44Chronic hepatic failure (HP:0100626)2.55646580
45Mitochondrial inheritance (HP:0001427)2.55222481
46Posterior subcapsular cataract (HP:0007787)2.54552925
47Recurrent bronchitis (HP:0002837)2.54130704
48IgM deficiency (HP:0002850)2.53471413
49Increased CSF lactate (HP:0002490)2.53458789
50Polycythemia (HP:0001901)2.52549955
51Abnormality of sulfur amino acid metabolism (HP:0004339)2.50505159
52Thrombocytosis (HP:0001894)2.48938502
53Abnormality of the labia minora (HP:0012880)2.48700802
54Cerebral hypomyelination (HP:0006808)2.47137323
55IgG deficiency (HP:0004315)2.45248939
56Large for gestational age (HP:0001520)2.44783294
57Irregular epiphyses (HP:0010582)2.44437016
58Hepatic necrosis (HP:0002605)2.44011591
59Absent rod-and cone-mediated responses on ERG (HP:0007688)2.39474555
60Recurrent cutaneous fungal infections (HP:0011370)2.38626962
61Chronic mucocutaneous candidiasis (HP:0002728)2.38626962
62Abnormality of the renal cortex (HP:0011035)2.35618354
63Reticulocytosis (HP:0001923)2.35305103
64Abnormality of the nasal mucosa (HP:0000433)2.35099273
65Encephalitis (HP:0002383)2.34829676
66Birth length less than 3rd percentile (HP:0003561)2.33173584
67Multiple enchondromatosis (HP:0005701)2.32889129
68Petechiae (HP:0000967)2.32328330
69Prolonged partial thromboplastin time (HP:0003645)2.31110661
70Hypoproteinemia (HP:0003075)2.29824246
71Acute necrotizing encephalopathy (HP:0006965)2.29652473
72Cholelithiasis (HP:0001081)2.28555894
73Abnormality of pyrimidine metabolism (HP:0004353)2.28380791
74Abnormal rod and cone electroretinograms (HP:0008323)2.26921088
75Abnormal biliary tract physiology (HP:0012439)2.26475029
76Bile duct proliferation (HP:0001408)2.26475029
77Nephronophthisis (HP:0000090)2.25621616
78Abnormality of DNA repair (HP:0003254)2.22455914
79Abnormality of T cells (HP:0002843)2.21937800
80Abnormality of nucleobase metabolism (HP:0010932)2.21360244
81Gait imbalance (HP:0002141)2.20754587
82Hypertriglyceridemia (HP:0002155)2.20462361
83Hypoglycemic coma (HP:0001325)2.20075683
84Renal cortical cysts (HP:0000803)2.19509894
85Abnormality of dicarboxylic acid metabolism (HP:0010995)2.19129707
86Dicarboxylic aciduria (HP:0003215)2.19129707
87Congenital primary aphakia (HP:0007707)2.18596063
88Abnormality of purine metabolism (HP:0004352)2.17849970
89Nephrogenic diabetes insipidus (HP:0009806)2.17580528
90Increased serum lactate (HP:0002151)2.17237317
91Abnormal platelet function (HP:0011869)2.16752936
92Impaired platelet aggregation (HP:0003540)2.16752936
93Hypoplasia of the pons (HP:0012110)2.15885926
94Nausea (HP:0002018)2.15579717
95Generalized aminoaciduria (HP:0002909)2.15101964
96Hyperventilation (HP:0002883)2.14302597
97Abnormal number of erythroid precursors (HP:0012131)2.14120780
98Abnormal gallbladder morphology (HP:0012437)2.14111286
99Gout (HP:0001997)2.14068494
100Recurrent gram-negative bacterial infections (HP:0005420)2.13533102
101Spastic diplegia (HP:0001264)2.13503621
102Abnormal mitochondria in muscle tissue (HP:0008316)2.12669703
103Pustule (HP:0200039)2.12536747
104Type I transferrin isoform profile (HP:0003642)2.12520317
105Progressive macrocephaly (HP:0004481)2.12511083
106Subcapsular cataract (HP:0000523)2.12116144
107Vacuolated lymphocytes (HP:0001922)2.11950536
108Increased serum ferritin (HP:0003281)2.11489831
109Abnormal protein glycosylation (HP:0012346)2.10876294
110Abnormal glycosylation (HP:0012345)2.10876294
111Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.10876294
112Abnormal protein N-linked glycosylation (HP:0012347)2.10876294
113Abnormality of the anterior horn cell (HP:0006802)2.08988333
114Degeneration of anterior horn cells (HP:0002398)2.08988333
115Abnormality of the common coagulation pathway (HP:0010990)2.08029457
116Hypercholesterolemia (HP:0003124)2.07880751
117Abnormality of the intrinsic pathway (HP:0010989)2.07261694
118Abnormality of iron homeostasis (HP:0011031)2.06746002
119Keratoconjunctivitis (HP:0001096)2.06017968
120Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.05659656
121Lipid accumulation in hepatocytes (HP:0006561)2.05285473
122Chronic otitis media (HP:0000389)2.00884031
123Progressive microcephaly (HP:0000253)2.00767650
124Severe combined immunodeficiency (HP:0004430)1.99163798
125Recurrent fungal infections (HP:0002841)1.99088529
126Hyperuricemia (HP:0002149)1.98867202
127Increased purine levels (HP:0004368)1.98867202
128Abnormality of serum amino acid levels (HP:0003112)1.98615305
129Abnormality of the renal medulla (HP:0100957)1.97323493
130Abnormality of T cell physiology (HP:0011840)1.96491833
131Abnormality of cells of the erythroid lineage (HP:0012130)1.96333568
132Keratoconjunctivitis sicca (HP:0001097)1.95953890
133Abnormality of transition element cation homeostasis (HP:0011030)1.95743787
134Aplasia/Hypoplasia of the uvula (HP:0010293)1.95202436
135Fat malabsorption (HP:0002630)1.94554736
136Complement deficiency (HP:0004431)1.94442422
137Constricted visual fields (HP:0001133)1.93370893
138Acute encephalopathy (HP:0006846)1.92913245
139Recurrent viral infections (HP:0004429)1.91896172
140Cystic liver disease (HP:0006706)1.91144150
141Elevated erythrocyte sedimentation rate (HP:0003565)1.91098617
142Stomatitis (HP:0010280)1.90366849
143Recurrent abscess formation (HP:0002722)1.89217460
144Nonimmune hydrops fetalis (HP:0001790)1.88849656
145Myocardial infarction (HP:0001658)1.88418856
146Epistaxis (HP:0000421)1.87609221
147Lactic acidosis (HP:0003128)1.87461969
148Flat acetabular roof (HP:0003180)1.87433312
149Retinal dysplasia (HP:0007973)1.87347067
150Agammaglobulinemia (HP:0004432)1.87271269
151Brushfield spots (HP:0001088)1.87098336
152Abnormality of B cell number (HP:0010975)1.86377697
153Cutaneous melanoma (HP:0012056)1.86256242
154Widely spaced teeth (HP:0000687)1.85503017
155Progressive muscle weakness (HP:0003323)1.85418545
156Lissencephaly (HP:0001339)1.85293478
157Basal cell carcinoma (HP:0002671)1.84755759
158Sloping forehead (HP:0000340)1.83255665
159Abnormality of the ileum (HP:0001549)1.83063725
160Hypochromic microcytic anemia (HP:0004840)1.81956577
161Inability to walk (HP:0002540)1.81279047
162Bronchitis (HP:0012387)1.80695345
163Thrombophlebitis (HP:0004418)1.80598838
164Abnormality of the preputium (HP:0100587)1.80009275
165Recurrent sinusitis (HP:0011108)1.79852896
166Colitis (HP:0002583)1.78647332
167Rhabdomyolysis (HP:0003201)1.78207544
168Entropion (HP:0000621)1.77804061
169Meckel diverticulum (HP:0002245)1.77029517
170Abnormality of chromosome stability (HP:0003220)1.76619999
171Attenuation of retinal blood vessels (HP:0007843)1.76602341
172Carpal bone hypoplasia (HP:0001498)1.76254915
173Increased hepatocellular lipid droplets (HP:0006565)1.76252173
174Methylmalonic acidemia (HP:0002912)1.76088239
175Abnormality of eosinophils (HP:0001879)1.75413165
176Abnormality of lateral ventricle (HP:0030047)1.75334178
177Recurrent bacterial skin infections (HP:0005406)1.75179707
178Eosinophilia (HP:0001880)1.74748121
179Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.74346539
180Progressive inability to walk (HP:0002505)1.74243089
181CNS hypomyelination (HP:0003429)1.74044918
182Abnormality of methionine metabolism (HP:0010901)1.73597502
183Optic disc pallor (HP:0000543)1.73534950
184Ketoacidosis (HP:0001993)1.72935546
185Stomach cancer (HP:0012126)1.72762424
186Beaking of vertebral bodies (HP:0004568)1.72249227
187Lethargy (HP:0001254)1.71791436
188Keratitis (HP:0000491)1.70675694
189Prolonged bleeding time (HP:0003010)1.70164794
190Meningitis (HP:0001287)1.69893355
191Epileptic encephalopathy (HP:0200134)1.69887429
192Elevated hepatic transaminases (HP:0002910)1.69872518
193Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.69302007
194Vascular calcification (HP:0004934)1.68692851
195Abnormality of aspartate family amino acid metabolism (HP:0010899)1.68473176
196Decreased activity of mitochondrial respiratory chain (HP:0008972)1.67919437
197Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.67919437

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TAOK35.29719050
2FRK3.41865140
3WEE13.25768061
4MAP4K23.24078824
5PKN22.95777480
6BCKDK2.82708239
7MAP4K12.79568461
8BUB12.73242817
9NME22.56445384
10BRSK22.22256193
11NEK22.17894359
12NUAK12.15903221
13TRIB32.14925382
14PDK32.06440805
15PDK42.06440805
16FLT32.02781743
17EIF2AK11.94873742
18TYK21.93025548
19CCNB11.86598271
20ERN11.69685320
21ADRBK21.68105986
22WNK31.66798078
23PINK11.64245720
24ZAK1.62089912
25STK101.61591859
26ACVR1B1.57787262
27MAPK131.51077079
28PTK61.50554535
29TBK11.46845411
30CAMKK21.41196984
31EEF2K1.40799972
32ZAP701.39937004
33TLK11.39603053
34FES1.34356519
35STK161.33139249
36VRK21.32924961
37LRRK21.32504819
38JAK31.30928597
39FGFR41.29413668
40RPS6KA41.27299667
41PRKCQ1.25003496
42MAPKAPK31.23570707
43CSF1R1.21513292
44BTK1.21443896
45DYRK31.18248510
46GRK11.17854569
47KIT1.17082219
48MAP3K81.15107034
49BMPR1B1.14340253
50EIF2AK31.13630759
51CASK1.13090921
52RIPK11.13051955
53MAP2K61.12334837
54GRK61.11751102
55SIK21.10822797
56PDK21.09106646
57TNK21.05897512
58KDR1.05781594
59NME11.05773658
60MUSK1.05243637
61MAP2K31.04120367
62PAK31.03415821
63RPS6KB21.01213717
64MAP2K70.99997849
65PIK3CA0.99549796
66RIPK40.97088716
67DYRK20.96730647
68BRSK10.94375752
69KSR20.93708098
70NEK90.91736288
71PIM10.90957142
72PLK40.90769371
73TSSK60.88708913
74MAP3K140.88141472
75INSRR0.88019429
76TTN0.86791403
77SCYL20.86280390
78MAP3K40.85542379
79STK40.85531449
80PLK10.85383279
81MKNK20.84059139
82DYRK1B0.83481540
83TGFBR10.80297267
84TEC0.79242968
85PIK3CG0.79034833
86MAP3K100.78868192
87CDC70.77913104
88NEK10.77426380
89TAOK10.77058508
90JAK20.76458685
91STK30.75385707
92ITK0.74802839
93TRIM280.74617076
94CDK40.74382588
95AURKB0.74040934
96NTRK30.72372692
97TAF10.71696340
98YES10.71446261
99IRAK40.71200804
100SYK0.70812678
101PTK2B0.70653645
102EPHB10.69655553
103MAPK110.69326512
104RPS6KA50.68826463
105TESK10.68611035
106TGFBR20.67279654
107IKBKE0.65770030
108MELK0.65141631
109CDK190.64565491
110MKNK10.63758829
111TESK20.62420799
112BMPR20.61893714
113JAK10.59974951
114MATK0.59427523
115PDK10.59344075
116OXSR10.58635264
117IRAK10.57974571
118MAP3K110.57397912
119CHEK20.57324988
120PRKCI0.57258828
121BCR0.55534295
122HCK0.55131655
123PAK40.53270380
124PASK0.50798236
125BLK0.50447186
126SIK30.50424512
127RPS6KB10.49883128
128DAPK20.48861320
129CSNK1G20.47519086
130EIF2AK20.47461986
131MARK10.47158265
132ATR0.46455517
133VRK10.46349503
134PLK30.45867068
135PRKAA10.45422908
136CSNK1G30.44179382
137MARK30.44075323
138CSK0.44057055
139STK110.43925606
140RAF10.43640044
141LCK0.43021515
142FGR0.42500225
143LYN0.41484840
144SRPK10.41362056
145IRAK30.40987667
146KSR10.40241027
147MAP3K130.40156771
148NEK60.39068122
149NLK0.38999132
150WNK40.37580181
151CDK70.37339312
152PRKAA20.37024257
153EPHA30.36991436
154TXK0.36853182
155ATM0.36069098
156IKBKB0.35240345
157ADRBK10.34556105
158CDK120.34095853
159MAPK40.33376893
160PIM20.32836775
161ABL10.32065435
162DYRK1A0.30826066

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005633.23429979
2Vitamin B6 metabolism_Homo sapiens_hsa007502.81577912
3Fanconi anemia pathway_Homo sapiens_hsa034602.70922559
4Homologous recombination_Homo sapiens_hsa034402.61885829
5Selenocompound metabolism_Homo sapiens_hsa004502.37874240
6Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.25560766
7Basal transcription factors_Homo sapiens_hsa030222.18871488
8Primary bile acid biosynthesis_Homo sapiens_hsa001202.18685764
9Pentose phosphate pathway_Homo sapiens_hsa000302.15124941
10Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.11523206
11Non-homologous end-joining_Homo sapiens_hsa034502.11217815
12Graft-versus-host disease_Homo sapiens_hsa053322.03009173
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.02965694
14Drug metabolism - other enzymes_Homo sapiens_hsa009832.00156802
15Fatty acid degradation_Homo sapiens_hsa000711.95604774
16Propanoate metabolism_Homo sapiens_hsa006401.93458754
17Allograft rejection_Homo sapiens_hsa053301.92938516
18Autoimmune thyroid disease_Homo sapiens_hsa053201.91429238
19Sulfur relay system_Homo sapiens_hsa041221.91029257
20Oxidative phosphorylation_Homo sapiens_hsa001901.88232288
21Intestinal immune network for IgA production_Homo sapiens_hsa046721.82844109
22RNA degradation_Homo sapiens_hsa030181.80979084
23Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.79670335
242-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.79302650
25Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.78502585
26Biosynthesis of amino acids_Homo sapiens_hsa012301.78362751
27Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.77671336
28Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.76004671
29Type I diabetes mellitus_Homo sapiens_hsa049401.75813630
30Folate biosynthesis_Homo sapiens_hsa007901.75533629
31Carbon metabolism_Homo sapiens_hsa012001.75401664
32Phototransduction_Homo sapiens_hsa047441.70325256
33Cysteine and methionine metabolism_Homo sapiens_hsa002701.67983717
34DNA replication_Homo sapiens_hsa030301.65157831
35Parkinsons disease_Homo sapiens_hsa050121.64045326
36Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.62807899
37Caffeine metabolism_Homo sapiens_hsa002321.55373685
38Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.52300707
39Linoleic acid metabolism_Homo sapiens_hsa005911.46303118
40Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.42965147
41alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.40101122
42Nitrogen metabolism_Homo sapiens_hsa009101.39911775
43Arginine biosynthesis_Homo sapiens_hsa002201.38606424
44Asthma_Homo sapiens_hsa053101.37758374
45Peroxisome_Homo sapiens_hsa041461.37511241
46Proteasome_Homo sapiens_hsa030501.36611653
47One carbon pool by folate_Homo sapiens_hsa006701.36562108
48Complement and coagulation cascades_Homo sapiens_hsa046101.36172133
49Fatty acid metabolism_Homo sapiens_hsa012121.35845560
50Collecting duct acid secretion_Homo sapiens_hsa049661.35412283
51Tryptophan metabolism_Homo sapiens_hsa003801.32351091
52Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.31738521
53Vitamin digestion and absorption_Homo sapiens_hsa049771.31385992
54Pyruvate metabolism_Homo sapiens_hsa006201.28576943
55PPAR signaling pathway_Homo sapiens_hsa033201.26882778
56Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.23145232
57T cell receptor signaling pathway_Homo sapiens_hsa046601.20186624
58Base excision repair_Homo sapiens_hsa034101.19832555
59Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.19148192
60Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.17220072
61Fructose and mannose metabolism_Homo sapiens_hsa000511.15674538
62RNA polymerase_Homo sapiens_hsa030201.13825513
63Pyrimidine metabolism_Homo sapiens_hsa002401.13656106
64Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.11599260
65Purine metabolism_Homo sapiens_hsa002301.10717571
66Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.05325186
67RNA transport_Homo sapiens_hsa030131.03374580
68NOD-like receptor signaling pathway_Homo sapiens_hsa046211.03067943
69Retinol metabolism_Homo sapiens_hsa008301.02943595
70Starch and sucrose metabolism_Homo sapiens_hsa005001.02921711
71Regulation of autophagy_Homo sapiens_hsa041401.02723315
72Butanoate metabolism_Homo sapiens_hsa006501.02196984
73Cell cycle_Homo sapiens_hsa041101.02189043
74Ether lipid metabolism_Homo sapiens_hsa005651.01256875
75Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.00992489
76SNARE interactions in vesicular transport_Homo sapiens_hsa041301.00293908
77Olfactory transduction_Homo sapiens_hsa047400.99794648
78Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.99292546
79Staphylococcus aureus infection_Homo sapiens_hsa051500.99291399
80ABC transporters_Homo sapiens_hsa020100.97703272
81Antigen processing and presentation_Homo sapiens_hsa046120.95950660
82Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.94674658
83Legionellosis_Homo sapiens_hsa051340.93340857
84Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.92760029
85Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.91407686
86Systemic lupus erythematosus_Homo sapiens_hsa053220.86815818
87Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.86815767
88Fat digestion and absorption_Homo sapiens_hsa049750.86144244
89Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.85964842
90Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.83923579
91Glutathione metabolism_Homo sapiens_hsa004800.80244836
92p53 signaling pathway_Homo sapiens_hsa041150.76889251
93Galactose metabolism_Homo sapiens_hsa000520.76830338
94beta-Alanine metabolism_Homo sapiens_hsa004100.74584109
95Fatty acid elongation_Homo sapiens_hsa000620.74401607
96Huntingtons disease_Homo sapiens_hsa050160.74289160
97Glycerolipid metabolism_Homo sapiens_hsa005610.73783987
98Chemical carcinogenesis_Homo sapiens_hsa052040.73018670
99Primary immunodeficiency_Homo sapiens_hsa053400.72207796
100Alzheimers disease_Homo sapiens_hsa050100.72076609
101Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.71748272
102Ribosome_Homo sapiens_hsa030100.70700927
103Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.70087762
104Mismatch repair_Homo sapiens_hsa034300.69874731
105Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.69527342
106Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.67877021
107Epstein-Barr virus infection_Homo sapiens_hsa051690.67692577
108Protein export_Homo sapiens_hsa030600.65538841
109Spliceosome_Homo sapiens_hsa030400.65225250
110RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.62914286
111Viral carcinogenesis_Homo sapiens_hsa052030.62517652
112B cell receptor signaling pathway_Homo sapiens_hsa046620.61804345
113Steroid biosynthesis_Homo sapiens_hsa001000.60884868
114Jak-STAT signaling pathway_Homo sapiens_hsa046300.60828943
115Nucleotide excision repair_Homo sapiens_hsa034200.60588659
116Bile secretion_Homo sapiens_hsa049760.60151033
117Cyanoamino acid metabolism_Homo sapiens_hsa004600.59639187
118Taste transduction_Homo sapiens_hsa047420.59568510
119Measles_Homo sapiens_hsa051620.58808392
120Sulfur metabolism_Homo sapiens_hsa009200.58489329
121Other glycan degradation_Homo sapiens_hsa005110.55253069
122Rheumatoid arthritis_Homo sapiens_hsa053230.53906658
123Insulin resistance_Homo sapiens_hsa049310.52108007
124Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.51923403
125Hematopoietic cell lineage_Homo sapiens_hsa046400.51768111
126Metabolic pathways_Homo sapiens_hsa011000.51206515
127N-Glycan biosynthesis_Homo sapiens_hsa005100.50924455
128Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.50478876
129Apoptosis_Homo sapiens_hsa042100.49942189
130Maturity onset diabetes of the young_Homo sapiens_hsa049500.47306505
131Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.45786637
132NF-kappa B signaling pathway_Homo sapiens_hsa040640.45780518
133Adipocytokine signaling pathway_Homo sapiens_hsa049200.44885746
134* Lysosome_Homo sapiens_hsa041420.44507913
135Chemokine signaling pathway_Homo sapiens_hsa040620.43492944
136Renin-angiotensin system_Homo sapiens_hsa046140.43488286
137Glycerophospholipid metabolism_Homo sapiens_hsa005640.43073504
138Herpes simplex infection_Homo sapiens_hsa051680.42372071
139Dorso-ventral axis formation_Homo sapiens_hsa043200.41942157
140Arginine and proline metabolism_Homo sapiens_hsa003300.39628226
141Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.38406332
142AMPK signaling pathway_Homo sapiens_hsa041520.38209375
143mTOR signaling pathway_Homo sapiens_hsa041500.36931811
144mRNA surveillance pathway_Homo sapiens_hsa030150.36469054
145Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.34808553
146Leishmaniasis_Homo sapiens_hsa051400.34626681
147Arachidonic acid metabolism_Homo sapiens_hsa005900.34117466
148Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.31378691
149Nicotine addiction_Homo sapiens_hsa050330.28238696
150Viral myocarditis_Homo sapiens_hsa054160.27810518
151Influenza A_Homo sapiens_hsa051640.27323274
152Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.25837995
153Tuberculosis_Homo sapiens_hsa051520.25463750
154Inositol phosphate metabolism_Homo sapiens_hsa005620.23879800
155Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.23538007

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